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The mechanisms underlying this disorder have not been deeply investigated. Due to its rarity, no guidelines are currently available for treatment and management of GSD. We recently evaluated the cellular alterations of the bone remodeling in patients showing that osteoclast precursors displayed increased ability to differentiate into osteoclasts and that affected osteoclasts resorb bone more actively than control cells. Moreover, osteoblasts isolated from a patient showed a defective ability to form mineralized nodules. In this paper, we investigated the molecular pathways involved in the cellular defects of GSD bone cells. For this study, we recruited nine patients and performed miRNome analysis of bone cells. Between the 178 miRNAs robustly expressed in GSD osteoclasts, significant modulation of three miRNAs (miR\u20101246, miR\u20101\u20103p, and miR\u2010137\u20103p) involved in the regulation of osteoclast formation and activity or in the angiomatous proliferation was found in patients' cells. Interestingly, miR\u20101246 was also up\u2010regulated in serum exosomes from patients. Analysis of miRNAs from patient osteoblasts suggested alteration of miR\u2010204a\u20105p, miR\u2010615\u20103p and miR\u2010378a\u20103p regulating osteoblast function and differentiation. The resulting miRNA pattern may help to understand better the mechanisms involved in GSD and to identify new potential therapeutic targets for this rare disease.<\/jats:p>","DOI":"10.1096\/fj.202001904rr","type":"journal-article","created":{"date-parts":[[2021,2,20]],"date-time":"2021-02-20T23:25:59Z","timestamp":1613863559000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Dysregulated miRNAs in bone cells of patients with Gorham\u2010Stout disease"],"prefix":"10.1096","volume":"35","author":[{"given":"Michela","family":"Rossi","sequence":"first","affiliation":[{"name":"Bone Physiopathology Research Unit Genetics and Rare Diseases Research Division Bambino Ges\u00f9 Children\u2019s Hospital IRCCS Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ippolita","family":"Rana","sequence":"additional","affiliation":[{"name":"Rare Diseases and Medical Genetics Unit Bambino Ges\u00f9 Children's 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